Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (61)

2024

  1. Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy

    Circulation: Heart Failure

  2. Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies

    Genes, Vol. 15, Núm. 6

  3. Diagnosing transthyretin amyloidosis in patients with known genetic cardiomyopathies - opportunities and open questions. Response

    Revista Espanola de Cardiologia

  4. Diagnosis and treatment of myocarditis and inflammatory cardiomyopathy. Consensus document of the SEC-Working Group on Myocarditis

    Revista Espanola de Cardiologia, Vol. 77, Núm. 8, pp. 667-679

  5. Diagnosis of transthyretin amyloidosis in patients with established cardiomyopathy

    Revista Espanola de Cardiologia, Vol. 77, Núm. 4, pp. 347-349

  6. Efficacy and Safety of Aficamten in Symptomatic Nonobstructive Hypertrophic Cardiomyopathy: Results From the REDWOOD-HCM Trial, Cohort 4

    Journal of Cardiac Failure

  7. Impact of Aficamten on Disease and Symptom Burden in Obstructive Hypertrophic Cardiomyopathy: Results From SEQUOIA-HCM

    Journal of the American College of Cardiology, Vol. 84, Núm. 19, pp. 1821-1831

  8. Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers

    Journal of Medical Genetics, Vol. 61, Núm. 5, pp. 423-427

  9. Non-invasive imaging techniques in transcatheter aortic valve implantation

    Cirugia Cardiovascular

  10. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

    Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651

  11. Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy

    JACC: Clinical Electrophysiology, Vol. 10, Núm. 6, pp. 1178-1190

  12. Pregnancy in women with dilated cardiomyopathy genetic variants

    Revista Espanola de Cardiologia

  13. Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy

    ESC Heart Failure

  14. Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation

    JACC: Clinical Electrophysiology, Vol. 10, Núm. 10, pp. 2250-2260

  15. Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004404

  16. Standard-of-Care Medication Withdrawal in Patients With Obstructive Hypertrophic Cardiomyopathy Receiving Aficamten in FOREST-HCM

    Journal of the American College of Cardiology, Vol. 84, Núm. 19, pp. 1839-1849

2023

  1. A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve

    Circulation, Vol. 147, Núm. 1, pp. 47-65

  2. A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 120

  3. Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

    European Heart Journal, Vol. 44, Núm. 48, pp. 5064-5073

  4. Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report

    European Heart Journal - Case Reports, Vol. 7, Núm. 11